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1993 1
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2019 2
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Page 1
The origin of nephrocalcinosis, Randall's plaque and renal stones: a cell biology viewpoint.
Gambaro G, Abaterusso C, Fabris A, Ruggera L, Zattoni F, Del Prete D, D'Angelo A, Anglani F. Gambaro G, et al. Arch Ital Urol Androl. 2009 Sep;81(3):166-70. Arch Ital Urol Androl. 2009. PMID: 19911679 Review.
Medullary nephrocalcinosis is a rare condition typically observed in metabolic conditions prone to renal calcium stones. Randall's plaques are very frequently observed in the common idiopathic calcium-oxalate nephrolithiasis. ...
Medullary nephrocalcinosis is a rare condition typically observed in metabolic conditions prone to renal calcium stones
Medullary nephrocalcinosis associated with long-term furosemide abuse in adults.
Kim YG, Kim B, Kim MK, Chung SJ, Han HJ, Ryu JA, Lee YH, Lee KB, Lee JY, Huh W, Oh HY. Kim YG, et al. Nephrol Dial Transplant. 2001 Dec;16(12):2303-9. doi: 10.1093/ndt/16.12.2303. Nephrol Dial Transplant. 2001. PMID: 11733620
Kidney biopsies performed in three patients showed focal tubulo-interstitial fibrosis and atrophy and calcifications were observed in outer medullary tubulo-interstitium. CONCLUSIONS: Long-term furosemide abuse can cause medullary nephrocalcinosis in adults, …
Kidney biopsies performed in three patients showed focal tubulo-interstitial fibrosis and atrophy and calcifications were observed in …
Ultrasound is superior to computed tomography for assessment of medullary nephrocalcinosis in hypoparathyroidism.
Boyce AM, Shawker TH, Hill SC, Choyke PL, Hill MC, James R, Yovetich NA, Collins MT, Gafni RI. Boyce AM, et al. J Clin Endocrinol Metab. 2013 Mar;98(3):989-94. doi: 10.1210/jc.2012-2747. Epub 2013 Jan 24. J Clin Endocrinol Metab. 2013. PMID: 23348401 Free PMC article.
Interobserver agreement was similar between modalities, with kappas of 0.74 for US and 0.70 for CT. Only moderate agreement was found between US and CT scores, with an intermodality kappa of 0.47 and 60% concordance. Of discordant pairs, 81% had higher US scores and …
Interobserver agreement was similar between modalities, with kappas of 0.74 for US and 0.70 for CT. Only moderate agreement was found betwee …
Sperm Retrieval in Adolescents and Young Adults with Klinefelter Syndrome: A Prospective, Pilot Study.
Nahata L, Yu RN, Paltiel HJ, Chow JS, Logvinenko T, Rosoklija I, Cohen LE. Nahata L, et al. J Pediatr. 2016 Mar;170:260-5.e1-2. doi: 10.1016/j.jpeds.2015.12.028. Epub 2015 Dec 31. J Pediatr. 2016. PMID: 26746120 Clinical Trial.
Secondary aims were to evaluate other clinical characteristics of the cohort and identify predictors of sperm retrieval. STUDY DESIGN: Patients 12-25 years of age with Klinefelter syndrome (47,XXY) were recruited at the Boston Children's Hospital. ...Incidentally, one-thir …
Secondary aims were to evaluate other clinical characteristics of the cohort and identify predictors of sperm retrieval. STUDY DESIGN …
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Dasgupta D, et al. J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3. J Am Soc Nephrol. 2014. PMID: 24700880 Free PMC article.
Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na(+))-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder character …
Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na( …
Symptomatic renal tubular acidosis (RTA) in patients with systemic lupus erythematosus: an analysis of six cases with new association of type 4 RTA.
Li SL, Liou LB, Fang JT, Tsai WP. Li SL, et al. Rheumatology (Oxford). 2005 Sep;44(9):1176-80. doi: 10.1093/rheumatology/keh705. Epub 2005 Jun 14. Rheumatology (Oxford). 2005. PMID: 15956092
Three patients with type 1, but no patients with type 4 RTA, had medullary nephrocalcinosis. The majority of SLE patients with distal RTA (type 1 and type 4) had nephritis with proteinuria. ...In particular, we report here for the first time two cases of type 4 RTA …
Three patients with type 1, but no patients with type 4 RTA, had medullary nephrocalcinosis. The majority of SLE patients with …
Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene.
Kurnaz E, Savaş Erdeve Ş, Çetinkaya S, Aycan Z. Kurnaz E, et al. Horm Res Paediatr. 2019;91(4):278-284. doi: 10.1159/000492899. Epub 2018 Sep 18. Horm Res Paediatr. 2019. PMID: 30227399 Free article.
After initiation of phosphorus therapy, hypokalemia and metabolic alkalosis were observed. Renal sonography showed bilateral medullary nephrocalcinosis. ...
After initiation of phosphorus therapy, hypokalemia and metabolic alkalosis were observed. Renal sonography showed bilateral medul
Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
Darcy D, Atwal PS, Angell C, Gadi I, Wallerstein R. Darcy D, et al. Am J Med Genet A. 2015 Oct;167A(10):2463-9. doi: 10.1002/ajmg.a.37187. Epub 2015 Jul 29. Am J Med Genet A. 2015. PMID: 26219535
Hyperinsulinemic hypoglycemia is present, which is associated with paternal UPD 11p15.5; and she likely has medullary nephrocalcinosis, which is associated with paternal UPD 20, although this was not biochemically confirmed. ...The difference in the level of cytogen …
Hyperinsulinemic hypoglycemia is present, which is associated with paternal UPD 11p15.5; and she likely has medullary nephrocalcin
Unusual sonographic features of ARPKD.
Okumura M, Bunduki V, Shiang C, Schultz R, Zugaib M. Okumura M, et al. Prenat Diagn. 2006 Apr;26(4):330-2. doi: 10.1002/pd.1410. Prenat Diagn. 2006. PMID: 16491512
We report a case of enlarged kidneys with pyramidal hyperechogenicity quite similar to medullary nephrocalcinosis found in a fetus at 34 weeks' gestation. ...The fetal renal lobulation was prominent and on section, the pyramids were delineated within each lobule, ac …
We report a case of enlarged kidneys with pyramidal hyperechogenicity quite similar to medullary nephrocalcinosis found in a f …
Spontaneous calcification process in primary renal cells from a medullary sponge kidney patient harbouring a GDNF mutation.
Mezzabotta F, Cristofaro R, Ceol M, Del Prete D, Priante G, Familiari A, Fabris A, D'Angelo A, Gambaro G, Anglani F. Mezzabotta F, et al. J Cell Mol Med. 2015 Apr;19(4):889-902. doi: 10.1111/jcmm.12514. Epub 2015 Feb 18. J Cell Mol Med. 2015. PMID: 25692823 Free PMC article.
Medullary nephrocalcinosis is a hallmark of medullary sponge kidney (MSK). ...Our data indicate that the human papilla may be a perivascular niche in which pericyte/stromal-like cells can undergo osteogenic differentiation under particular conditions and suggest tha
Medullary nephrocalcinosis is a hallmark of medullary sponge kidney (MSK). ...Our data indicate that the human papilla may be
17 results